Background Rare cystic lung diseases are increasingly recognised due the wider application of CT scanning making cystic lung disease management a growing part of respiratory care. Cystic lung diseases tend to have extrapulmonary features that can both be diagnostic but also require surveillance and treatment in their own right. As some of these diseases now have specific treatments, making a precise diagnosis is crucial. While Langerhans cell histiocytosis, Birt-Hogg-Dubé syndrome, lymphoid interstitial pneumonia and lymphangioleiomyomatosis are becoming relatively well-known diseases to respiratory physicians, a targeted and thorough workup improves diagnostic accuracy and may suggest other ultrarare diseases such as light chain deposition disease, cystic pulmonary amyloidosis, low-grade metastatic neoplasms or infections. In many cases, diagnostic information is overlooked leaving uncertainty over the disease course and treatments. Aims This position statement from the Rare Disease Collaborative Network for cystic lung diseases will review how clinical, radiological and physiological features can be used to differentiate between these diseases. Narrative We highlight that in many cases a multidisciplinary diagnosis can be made without the need for lung biopsy and discuss where tissue sampling is necessary when non-invasive methods leave diagnostic doubt. We suggest an initial workup focusing on points in the history which identify key disease features, underlying systemic and familial diseases and a clinical examination to search for connective tissue disease and features of genetic causes of lung cysts. All patients should have a CT of the thorax and abdomen to characterise the pattern and burden of lung cysts and extrapulmonary features and also spirometry, gas transfer and a 6 min walk test. Discussion with a rare cystic lung disease centre is suggested before a surgical biopsy is undertaken. Conclusions We suggest that this focused workup should be performed in all people with multiple lung cysts and would streamline referral pathways, help guide early treatment, management decisions, improve patient experience and reduce overall care costs. It could also potentially catalyse a national research database to describe these less well-understood and unidentified diseases, categorise disease phenotypes and outcomes, potentially leading to better prognostic data and generating a stronger platform to understand specific disease biology.

中文翻译：

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囊性肺病的诊断：英国囊性肺病罕见疾病合作网络的立场声明

背景 由于 CT 扫描的广泛应用，罕见的囊性肺疾病越来越受到人们的重视，使得囊性肺疾病的治疗越来越成为呼吸护理的一部分。囊性肺疾病往往具有肺外特征，这些特征既可以诊断，也需要单独的监测和治疗。由于其中一些疾病现在有了特定的治疗方法，因此做出精确的诊断至关重要。虽然朗格汉斯细胞组织细胞增多症、Birt-Hogg-Dubé综合征、淋巴间质性肺炎和淋巴管平滑肌瘤病已成为呼吸科医生相对熟知的疾病，但有针对性和彻底的检查可提高诊断准确性，并可能提示其他极其罕见的疾病，如轻链沉积病、囊性囊肿病等。肺淀粉样变性、低度转移性肿瘤或感染。在许多情况下，诊断信息被忽视，导致病程和治疗的不确定性。目标 罕见疾病合作网络针对囊性肺疾病的立场声明将回顾如何使用临床、放射学和生理特征来区分这些疾病。叙述 我们强调，在许多情况下，无需进行肺活检即可进行多学科诊断，并讨论当非侵入性方法留下诊断疑问时，哪些地方需要组织取样。我们建议进行初步检查，重点关注病史中的要点，以确定关键疾病特征、潜在的系统性和家族性疾病，并进行临床检查以寻找结缔组织疾病和肺囊肿遗传原因的特征。所有患者均应进行胸部和腹部 CT 检查，以表征肺囊肿的类型和负荷以及肺外特征，并进行肺活量测定、气体转移和 6 分钟步行测试。建议在进行手术活检之前与罕见的囊性肺疾病中心进行讨论。结论 我们建议，所有患有多发性肺囊肿的患者都应进行这项有针对性的检查，这将简化转诊途径，帮助指导早期治疗和管理决策，改善患者体验并降低总体护理成本。它还可能促进建立一个国家研究数据库来描述这些不太了解和未识别的疾病，对疾病表型和结果进行分类，从而有可能获得更好的预后数据并生成一个更强大的平台来了解特定的疾病生物学。